Canonical Allele Identifier: CA16042994

Gene: CHRNE

Linked Data

• ClinVar Variation Id: 372873
• ClinVar RCV Id: RCV000413448 ; RCV002523922
• dbSNP Id: rs1555546038
• MyVariant Identifiers: chr17:g.4801983_4802033delinsG (hg19) ; chr17:g.4898688_4898738delinsG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.4898688_4898738delinsG , CM000679.2:g.4898688_4898738delinsG	GRCh38
NC_000017.10:g.4801983_4802033delinsG , CM000679.1:g.4801983_4802033delinsG	GRCh37
NC_000017.9:g.4742762_4742812delinsG	NCBI36
NG_008029.2:g.9338_9388delinsC
NG_028005.1:g.70349_70399delinsG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649488.2:c.1480_*48delinsC MANE Select	ENSP00000497829.1:n.[c.1480_*48delinsC;Ter494LeuextTer4]
ENST00000649830.1:c.*116_*166delinsC	ENSP00000496907.1:n.*116_*166delinsC
ENST00000652550.1:n.1206_1256delinsC
ENST00000293780.4:c.1480_*48delinsC	ENSP00000293780.4:n.[c.1480_*48delinsC;Ter494LeuextTer4]
ENST00000572438.1:n.1166_1216delinsC
NM_000080.3:c.1480_*48delinsC	NP_000071.1:n.[c.1480_*48delinsC;Ter494LeuextTer4]
NM_000080.4:c.1480_*48delinsC MANE Select	NP_000071.1:n.[c.1480_*48delinsC;Ter494LeuextTer4]
XM_017024115.1:c.1444_*48delinsC	XP_016879604.1:n.[c.1444_*48delinsC;Ter482LeuextTer4]